Canonical Allele Identifier: CA2263913791

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185689_50185690delinsTG , CM000679.2:g.50185689_50185690delinsTG	GRCh38
NC_000017.10:g.48263050_48263051delinsTG , CM000679.1:g.48263050_48263051delinsTG	GRCh37
NC_000017.9:g.45618049_45618050delinsTG	NCBI36
NG_007400.1:g.20950_20951delinsCA , LRG_1:g.20950_20951delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-42_4249-41delinsCA MANE Select	ENSP00000225964.6:n.4249-42_4249-41delinsCA
ENST00000225964.9:c.4249-42_4249-41delinsCA	ENSP00000225964.5:n.4249-42_4249-41delinsCA
NM_000088.3:c.4249-42_4249-41delinsCA , LRG_1t1:c.4249-42_4249-41delinsCA	NP_000079.2:n.4249-42_4249-41delinsCA
XM_005257058.3:c.3979-42_3979-41delinsCA	XP_005257115.2:n.3979-42_3979-41delinsCA
XM_005257059.3:c.3331-42_3331-41delinsCA	XP_005257116.2:n.3331-42_3331-41delinsCA
XM_011524341.1:c.4051-42_4051-41delinsCA	XP_011522643.1:n.4051-42_4051-41delinsCA
XM_005257058.4:c.3979-42_3979-41delinsCA	XP_005257115.2:n.3979-42_3979-41delinsCA
XM_005257059.4:c.3331-42_3331-41delinsCA	XP_005257116.2:n.3331-42_3331-41delinsCA
NM_000088.4:c.4249-42_4249-41delinsCA MANE Select	NP_000079.2:n.4249-42_4249-41delinsCA